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Biotinidase Deficiency

Medical information you need to know as an adult with biotinidase deficiency

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Overview of the Condition:

Biotinidase deficiency is a genetic condition that causes your body to not be able to process and reuse a vitamin called biotin.

Medical Problems for Babies and Children:

  • Symptoms of this condition in babies and children can include seizures, low muscle tone, breathing problems, and developmental delays.
  • If left untreated, the condition can lead to hair loss, hearing and vision loss, skin rashes, and learning delays.
  • If the condition is found and treated early, and treatment is continued throughout a person’s life, many of these problems can be prevented.

Medical Problems for Teens and Young Adults:

  • To avoid developing symptoms and problems, teens and young adults must take biotin ongoing, as prescribed by your metabolic doctor.
  • Some girls and young women may experience hair loss, but this symptom can be fixed with increased doses of biotin as prescribed by your doctor.
  • Adults are at risk for developing symptoms if they do not maintain good levels of biotin in their blood.
  • Some adults may have less-serious forms of this condition and may experience weak muscles or skin rashes during times of stress.

How to Minimize Medical Problems and Complications:

  • Take supplements of biotin as prescribed by a doctor, usually 5 to 10mg per day.
  • Avoid raw eggs.
  • Schedule regular eye-sight and hearing checkups.
  • Keep your immunizations up-to-date.
  • Stay in regular contact with your health care providers and health specialists.

Fertility and Pregnancy:

Most medical experts believe that fertility is not affected in men and women who get ongoing health care and continue to take their biotin supplements.

How To Get Support:

Resources:

Genetics Home Reference
http://ghr.nlm.nih.gov/condition=biotinidasedeficiency

Biotinidase Deficiency Family Support Group
http://biotinidasedeficiency.20m.com/

Transition Toolkit – New England Consortium of Metabolic Programs
http://newenglandconsortium.org/for-families/transition-toolkit/

Got Transition
http://gottransition.org/

Genetics Referrals:

Clinical Services
http://www.ncbi.nlm.nih.gov/sites/genetests/clinic?db=genetests

Genetic Services
http://www.acmg.net/gis

What Next?

Now you can fill out the Medical Health Summary, print it, and save it. This will help you keep important medical information in one place.

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